WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
Disease: Congenital anomaly of brain ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200140363
rs200140363
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C0266449
Disease:
Congenital anomaly of brain 		0.710 GeneticVariation BEFREE We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia (CED) ciliopathy, who unusually carries several homozygosity tracts involving homozygous missense mutations in SPAG17 (exon 8; c.1069G > C; p.Asp357His) and WDR35 (exon 13; c.1415G > A; p.Arg472Gln) as revealed by homozygosity mapping and next generation sequencing. 29174089 2018
dbSNP: rs200140363
rs200140363
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
CUI: C0266449
Disease:
Congenital anomaly of brain 		T 0.710 GeneticVariation CLINVAR